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Article

A cis-regulatory element regulates ERAP2 expression through autoimmune disease risk SNPs.

Cell genomics - 10 Jan 2024

Venema Wouter J, Hiddingh Sanne, van Loosdregt Jorg, Bowes John, Balliu Brunilda, de Boer Joke H, Ossewaarde-van Norel Jeannette, Thompson Susan D, Langefeld Carl D, de Ligt Aafke, van der Veken Lars T, Krijger Peter H L, de Laat Wouter, Kuiper Jonas J W

Abstract excerpt

Single-nucleotide polymorphisms (SNPs) near the ERAP2 gene are associated with various autoimmune conditions, as well as protection against lethal infections. Due to high linkage disequilibrium, numerous trait-associated SNPs are correlated with ERAP2 expression; however, their functional mechanisms remain unidentified. We show by reciprocal allelic replacement that ERAP2 expression is directly controlled by the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38190099
DOI: 10.1016/j.xgen.2023.100460
PMCID: PMC10794781

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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